Researchers reported a unique mutation that supported an 8-year-old girl’s diagnosis of spinal muscle atrophy with lower extremity predominance (SMA-LED). The mutation, mapped to the BICD2 gene, resulted in a severe form of SMA-LED, type 2B, that emerged before birth and was primarily marked by joint contractures in infancy.
The activity of many genes may be dysregulated in spinal muscular atrophy (SMA), but the way the disease affects genes seems to vary across different types of tissues in the body, a study found. “Our comparative meta-analysis identified only few genes and pathways that were consistently dysregulated in SMA…
Young children with severe spinal muscular atrophy (SMA) have substantial loss of motor neurons in the thoracic region of the spinal cord, the area between the neck and the bottom of the ribs, a study found. The study provides a detailed look at SMA pathology in the spinal cord,…
Taldefgrobep alfa did not significantly improve motor function across the total population of treated spinal muscular atrophy (SMA) patients in a pivotal Phase 3 clinical trial, but significant improvements were seen among Caucasian participants. That’s according to trial results announced by the therapy’s developer, Biohaven Pharmaceuticals. The…
Gene therapy that selectively delivers the SMN1 gene to the liver reduced alterations related to spinal muscular atrophy (SMA) in a mouse model, restoring muscle size and correcting pancreatic issues. Mice that received liver-specific SMN1 also lived longer, performed better on motor tasks, and had fewer liver problems than untreated…
At Cure SMA’s 13th annual Hope on the Hill event in Washington, D.C., spinal muscular atrophy (SMA) patients, their families, lawmakers, and other advocates gathered to celebrate recent progress in disease research and legislative priorities for the SMA community. Among the speakers at the event were several members…
Slightly more than half of spinal muscular atrophy (SMA) patients in Australia who gave feedback for a study on how well they thought their treatments worked did not notice any improvement. The researchers said the results suggest a need for better, more comprehensive healthcare. More children than adults with…
Some 70% of children with spinal muscle atrophy (SMA) type 1 who underwent treatment with Spinraza alone or with Spinraza and then Zolgensma reached some motor milestones over 18 months, with greater improvements in those who received Spinraza early followed by Zolgensma, according to a small study. Ninety…
The use of advanced genetic testing techniques helped clinicians in China to identify novel mutations in the SMN1 gene in two unrelated children — and thus correctly diagnose them with spinal muscular atrophy (SMA), according…
The muscle fibers of children with spinal muscular atrophy (SMA) type 1 are substantially different from those of age-matched peers early in life, a study found. Muscle fibers are the basic units of muscle tissue that contract to allow movement. The differences were evident in levels and types of components…
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